A2V (p.Ala2Val) variant of ACADM (P11310)
A2V (p.Ala2Val) in ACADM (P11310) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- cosmic curated COSV10592
- Ensembl rs1647020485
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.32
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available